The skeletal manifestations of the congenital disorders of glycosylation

被引：37

作者：

Coman, D. ^{[2
]}

Irving, M. ^{[1
,2
]}

Kannu, P. ^{[1
,2
]}

Jaeken, J. ^{[3
]}

Savarirayan, R. ^{[1
,2
,4
]}

机构：

[1] Royal Childrens Hosp, So Cross Bone Dysplasia Ctr, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[2] Royal Childrens Hosp, Murdoch Childrens Res Inst, Genet Hlth Serv Victoria, Melbourne, Vic, Australia

[3] Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium

[4] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

来源：

CLINICAL GENETICS | 2008年 / 73卷 / 06期

关键词：

collagen; congenital disorder of glycosylation; osteopaenia; skeletal dysplasia;

D O I：

10.1111/j.1399-0004.2008.01015.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The congenital disorders of glycosylation (CDG) are a rapidly expanding disease group with protean presentations. Specific end-organ involvement leads to significant morbidity and mortality, and the skeletal manifestations are often not appreciated, apart from the common association of osteopaenia with CDG-Ia. We performed a literature review of all documented skeletal manifestations in reported CDG patients, revealing a diverse range of skeletal phenotypes. We discuss the possible underlying mechanisms of these skeletal manifestations observed in CDG that are important and frequently under-recognized.

引用

页码：507 / 515

页数：9

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